Canonical Allele Identifier: CA340133686

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508980-A-G
• MyVariant Identifiers: chr1:g.45974652A>G (hg19) ; chr1:g.45508980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508980A>G , CM000663.2:g.45508980A>G	GRCh38
NC_000001.10:g.45974652A>G , CM000663.1:g.45974652A>G	GRCh37
NC_000001.9:g.45747239A>G	NCBI36
NG_013378.1:g.13797A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.614A>G MANE Select	ENSP00000383840.4:p.Tyr205Cys
ENST00000401061.8:c.614A>G	ENSP00000383840.4:p.Tyr205Cys
ENST00000616135.1:c.443A>G	ENSP00000478859.1:p.Tyr148Cys
NM_015506.2:c.614A>G	NP_056321.2:p.Tyr205Cys
XM_005270724.3:c.419A>G	XP_005270781.1:p.Tyr140Cys
XM_011541204.1:c.443A>G	XP_011539506.1:p.Tyr148Cys
NM_001330540.1:c.443A>G	NP_001317469.1:p.Tyr148Cys
XM_005270724.5:c.419A>G	XP_005270781.1:p.Tyr140Cys
NM_015506.3:c.614A>G MANE Select	NP_056321.2:p.Tyr205Cys
NM_001330540.2:c.443A>G	NP_001317469.1:p.Tyr148Cys